Association Analysis Of STK39,MCCC1/LAMP3and Sporadic PD In Chinese Han Population

BackgroundWith the completion of the Human Genome Project, GWAS are widely used in exploring the genetic studies of complex diseases. So far, GWAS of Parkinson's disease in various populations have found dozens of single nucleitide polymorphism associated with PD. A meta-analysis of datasets from five Parkinson's disease GWAS from the USA and Europe found11loci that surpassed the threshold for genome-wide significance (p<5x10-8), five were newly identified loci (ACMSD, STK39, MCCC1/LAMP3, SYT11, and CCDC62/HIP1R). GWAS of the Ashkenazi Jewish population also identified locis:including STK39(rs375A775), LAMP3(rs12493050) gene。 Since the association between STK39, MCCC1/LAMP3gene and PD was confirmed in different populations, we suspected that the two genes were candidate genes for PD probably. Considering there is no such research, we conducted a case-control corhort to clarify the association.ObjectiveWe analyzed the association between the four single nucleotide polymorphism(SNPs) locis (rs2102808and rs3754775on the STK39; rs11711441and rs12493050on the MCCC1/LAMP3) and PD in a Chinese population.Methodspolymerase chain reaction and direct DNA sequencing analysis were used to detect the four variation in a case-control cohort comprised of993ethnic Chinese subjectsResult1) In the detection of the rs2102808, rs3754775and rs12493050, ungrouped populations,early-onset PD,late-onset PD,male PD or female PD with the corresponding control group showed no significant difference in allele and genotype frequency(P>0.0125).2) In the detection of the the of the rs11711441, there was significant difference between ungrouped populations,early-onset PD,late-onset PD,male PD,female PD and the corresponding control group in allele and genotype frequency (P<0.001, OR<1).3) there is no linkage disequilibrium between he rs2102808and rs3754775in the STK39gene or rs11711441and rs12493050in MCCC1/LAMP3gene (r2<0.5).Conclusion1)Our findings suggested that the allele G of rs11711441of the MCCC1/LAMP3can decrease the the risk of PD in Chinese population.2) No statistically significant difference in genotype frequency between cases and controls was observed for the other three SNPs.